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733086003: Pseudoprogeria syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498715018 Hall Berg Rudolph syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498716017 Pseudoprogeria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498717014 Pseudoprogeria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498718016 Absent eyebrows and eyelashes with intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499965013 Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
937881000172113 syndrome d'absence de sourcils et de cils, déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
964191000172118 pseudoprogéria fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pseudoprogeria syndrome (disorder) Is a microcéphalie false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Tetraplegia true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Congenital absence of eyelash true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a retard mental false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Congenital glaucoma true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Absent eyebrow true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Premature aging syndrome (disorder) true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Finding site Brain structure false Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) Finding site Entire eyelash false Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) Finding site Entire eyebrow true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) Finding site Eye structure false Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Finding site Entire eyebrow false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) Finding site Brain structure false Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) Finding site Eye structure true Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Finding site Entire eyelash true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) Is a Disorder of hair growth true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Alopecia false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) Is a Congenital anomaly of hair false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Ablepharon false Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Aplasia of skin true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Finding site Head structure true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Finding site Structure of central nervous system (body structure) true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) Is a Congenital anomaly of central nervous system true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) Interprets Intellectual ability (observable entity) false Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) Interprets Adaptation behavior (observable entity) false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Pseudoprogeria syndrome (disorder) Interprets Movement true Inferred relationship Some 10
Pseudoprogeria syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Interprets Movement observable true Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) Has interpretation Absent true Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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